Health / Medical Topics

    CYP27A1 wt Allele

    Human CYP27A1 wild-type allele is located within 2q33-qter and is approximately 34 kb in length. This allele, which encodes sterol 26-hydroxylase, mitochondrial protein, plays a role in bile synthesis and cholesterol homeostasis. Mutations in CYP27A1 are associated with cerebrotendinous xanthomatosis. (NCI Thesaurus)




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